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The phenotype of EZH2 haploinsufficiency—1.2‐Mb deletion at 7q36.1 in a child with tall stature and intellectual disability
Author(s) -
Suri Tanay,
Dixit Abhijit
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38356
Subject(s) - haploinsufficiency , short stature , intellectual disability , genetics , missense mutation , ezh2 , phenotype , medicine , pediatrics , biology , gene , chromatin
Weaver syndrome is a rare overgrowth syndrome with distinct facial features in young children and variable learning disability. Heterozygous missense mutations in EZH2 are present in over 90% of patients with Weaver syndrome but the exact mechanism by which EZH2 mutations cause Weaver syndrome is unknown. We report an 11‐year‐old boy with a de novo 1.2‐Mb deletion at 7q36.1 including EZH2 who has tall stature, significant intellectual disability, and some physical features of Weaver syndrome. Emerging evidence in the literature indicates that Weaver syndrome EZH2 mutations may result in loss of function of the gene and our report suggests that haploinsufficiency of EZH2 may replicate the clinical phenotype of Weaver syndrome.